HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000398.1:p.[Ala198_Glu199insAlaSerArgAsnArgArgValLeuArgArg;Glu199_Arg200insProVal;Arg200_Ala201insProGluGluArgThrGly;Thr203_Glu205delinsGlnHisGlyProAlaAsn] |
CA2577646877
NM_000407.5:c.594_595del
|